PKU
Genetic testing for PKU involves two different methods: Biochemical testing and Molecular genetic testing.
Biochemical testing can diagnose the condition but is unable to demonstrate the genetic cause. Molecular genetic testing may be used to determine genetic cause and looks for mutations in the gene causing the condition.
This testing is for medical, clinical purposes.
This testing is only available through offline genetic testing providers if indicated by further evaluation and consultation with a trained genetic professional. Use the zip code search box to find a trained genetic professional in your area.
Phenylketonuria (PKU) - Selected Mutations (as part of Whole Genome Scan)
PKU testing by whole genome scanning looks for selected
mutations in the gene causing the disorder. Of note, this testing does not detect all known disease-causing mutations. Depending on the
methodology used, whole genome scanning is typically not as accurate
as conventional molecular genetic testing methods.
As such, individuals who are pregnant, have a personal or family history of the
disorder, or have a spouse who is a known carrier, may be better
candidates for conventional molecular testing methods. Test results
should be discussed with a genetic professional.
This testing is available online through the Direct-to-Consumer Genetic Testing providers listed below. A consultation with a trained genetic professional may be useful.
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